Linked Data
ClinVar Variation Id:
346989
dbSNP Id:
rs376917019
ExAC:
3:98312097 C / T
gnomAD v2:
3-98312097-C-T
gnomAD v3:
3-98593253-C-T
gnomAD v4:
3-98593253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98593253C>T , CM000665.2:g.98593253C>T | GRCh38 |
| NC_000003.11:g.98312097C>T , CM000665.1:g.98312097C>T | GRCh37 |
| NC_000003.10:g.99794787C>T | NCBI36 |
| NG_015994.1:g.5359G>A | |
| NG_015994.2:g.5359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.252G>A MANE Select | ENSP00000497326.1:p.Gly84= | |
| ENST00000264193.2:c.252G>A | ENSP00000264193.2:p.Gly84= | |
| ENST00000513674.1:c.252G>A | ENSP00000424924.1:p.Gly84= | |
| ENST00000515041.1:n.358G>A | ||
| NM_000097.5:c.252G>A | NP_000088.3:p.Gly84= | |
| XM_005247125.3:c.252G>A | XP_005247182.1:p.Gly84= | |
| XM_011512437.1:c.252G>A | XP_011510739.1:p.Gly84= | |
| NM_000097.7:c.252G>A MANE Select | NP_000088.3:p.Gly84= | |
| XM_005247125.4:c.252G>A | XP_005247182.1:p.Gly84= | |
| XR_001740025.2:n.423G>A | ||
| XR_001740026.1:n.428G>A | ||
| XR_001740027.1:n.432G>A | ||
| XR_001740028.1:n.432G>A |